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Paper Information

Journal:   JOURNAL OF GORGAN UNIVERSITY OF MEDICAL SCIENCES   Fall-Winter 2001-2002 , Volume 3 , Number 8; Page(s) 19 To 24.
 
Paper: 

MUTATION DETECTION IN EXONS 3, 10, 12 OF BRCA1 GENE IN 30 PATIENTS AFFECTED WITH FAMILIAL BREAST CANCER

 
 
Author(s):  TEYMOURI H., MAHDIPOUR P., ATRI M., MIRZAI M.R.
 
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Abstract: 
Breast cancer is one of the most common cause of death due to cancer in women. More than half of hereditary breast / ovarian cancer families could be attributed to mutation in breast cancer susceptibility gene BRCA1.This study was performed on blood samples of 30 women who affected with familial breast cancer. Non-radioactive PCR-SSCP technique was utilized for mutation screening in exons 3, 10, 12 of BRCA1 gene.Two shifts in exon 3 and also two in exon 12 was detected, but no shift in exon 10 was found. Due to low number of recognized mutations, the statistical analysis didn"t show a meaningful correlation between mutations and pathological characteristics. Results from this study showed that there was a low possiblity of germline mutation in these three exons. Low rate of mutation in this report was concordance with the others.
 
Keyword(s): BREAST CANCER, MUTATION, BRCA1, PCR-SSCP
 
References: 
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